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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review


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Disease relevance of Hamartoma


Psychiatry related information on Hamartoma


High impact information on Hamartoma


Chemical compound and disease context of Hamartoma

  • While the TSC2 transcript is widely expressed primarily within neurons, tuberin is demonstrable primarily within dysplastic/cytomegalic cells of the cortex and subependymal hamartomas/SEGAs [11].
  • NAA resonance signals were present in the hamartomas, and the ratio of NAA to Cr was decreased in the hamartomas compared with the hypothalami of normal control subjects (t = 4.5, p = 0.005) [12].
  • Merlin is also expressed in reactive astrocytes and in the astrocytes of NF2-associated glial hamartomas [13].
  • Among the 14 hamartomas sampled, a spectrum of increased mI/Cr ratios was seen [14].
  • Only a few cases of this rare tumor, also known as "neuromuscular hamartoma" or "benign triton tumor," have been reported in the surgical literature [15].

Biological context of Hamartoma

  • The slow growth of the tumors in the heterozygote mice matches the limited growth potential of the great majority of TSC hamartomas, and the influence of genetic background on phenotype correlates with the marked variability in expression of TSC seen in patients [7].
  • Our data indicate that disruption of adhesion to the cell matrix through loss of hamartin may initiate the development of TSC hamartomas and that a Rho-mediated signalling pathway regulating cell adhesion may constitute a rate-limiting step in tumour formation [16].
  • Germline mutations in PTEN cause Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, which are hereditary hamartoma syndromes [17].
  • We analyzed 24 hamartomas from 10 patients for second-hit mutations, by several methods, including LOH, scanning of all exons of both TSC1 and TSC2, promoter methylation of TSC2, and clonality analysis [9].
  • We studied six hamartomas from four sporadic and two familial cases of TSC, none of which showed allele loss for markers on chromosome 16p13 [18].

Anatomical context of Hamartoma


Gene context of Hamartoma


Analytical, diagnostic and therapeutic context of Hamartoma


  1. Hypothalamic hamartoma: a source of luteinizing-hormone-releasing factor in precocious puberty. Judge, D.M., Kulin, H.E., Page, R., Santen, R., Trapukdi, S. N. Engl. J. Med. (1977) [Pubmed]
  2. Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Green, A.J., Smith, M., Yates, J.R. Nat. Genet. (1994) [Pubmed]
  3. Dysregulation of the TSC-mTOR pathway in human disease. Inoki, K., Corradetti, M.N., Guan, K.L. Nat. Genet. (2005) [Pubmed]
  4. Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease. Backman, S.A., Stambolic, V., Suzuki, A., Haight, J., Elia, A., Pretorius, J., Tsao, M.S., Shannon, P., Bolon, B., Ivy, G.O., Mak, T.W. Nat. Genet. (2001) [Pubmed]
  5. A mouse model for the learning and memory deficits associated with neurofibromatosis type I. Silva, A.J., Frankland, P.W., Marowitz, Z., Friedman, E., Laszlo, G.S., Cioffi, D., Jacks, T., Bourtchuladze, R., Lazlo, G. Nat. Genet. (1997) [Pubmed]
  6. The molecular genetics of tuberous sclerosis. Sampson, J.R., Harris, P.C. Hum. Mol. Genet. (1994) [Pubmed]
  7. Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background. Onda, H., Lueck, A., Marks, P.W., Warren, H.B., Kwiatkowski, D.J. J. Clin. Invest. (1999) [Pubmed]
  8. Gelastic epilepsy caused by hypothalamic hamartoma. Engelborghs, S., Mariën, P., De Deyn, P.P. Lancet (2000) [Pubmed]
  9. Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions. Niida, Y., Stemmer-Rachamimov, A.O., Logrip, M., Tapon, D., Perez, R., Kwiatkowski, D.J., Sims, K., MacCollin, M., Louis, D.N., Ramesh, V. Am. J. Hum. Genet. (2001) [Pubmed]
  10. Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways. Kwiatkowski, D.J., Manning, B.D. Hum. Mol. Genet. (2005) [Pubmed]
  11. Localization of tuberous sclerosis 2 mRNA and its protein product tuberin in normal human brain and in cerebral lesions of patients with tuberous sclerosis. Kerfoot, C., Wienecke, R., Menchine, M., Emelin, J., Maize, J.C., Welsh, C.T., Norman, M.G., DeClue, J.E., Vinters, H.V. Brain Pathol. (1996) [Pubmed]
  12. Hypothalamic hamartomas and gelastic epilepsy: a spectroscopic study. Tasch, E., Cendes, F., Li, L.M., Dubeau, F., Montes, J., Rosenblatt, B., Andermann, F., Arnold, D. Neurology (1998) [Pubmed]
  13. Expression of NF2-encoded merlin and related ERM family proteins in the human central nervous system. Stemmer-Rachamimov, A.O., Gonzalez-Agosti, C., Xu, L., Burwick, J.A., Beauchamp, R., Pinney, D., Louis, D.N., Ramesh, V. J. Neuropathol. Exp. Neurol. (1997) [Pubmed]
  14. Hypothalamic hamartomas: Correlation of MR imaging and spectroscopic findings with tumor glial content. Amstutz, D.R., Coons, S.W., Kerrigan, J.F., Rekate, H.L., Heiserman, J.E. AJNR. American journal of neuroradiology. (2006) [Pubmed]
  15. Neuromuscular choristoma of the sciatic nerve. Case report. Maher, C.O., Spinner, R.J., Giannini, C., Scheithauer, B.W., Crum, B.A. J. Neurosurg. (2002) [Pubmed]
  16. The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho. Lamb, R.F., Roy, C., Diefenbach, T.J., Vinters, H.V., Johnson, M.W., Jay, D.G., Hall, A. Nat. Cell Biol. (2000) [Pubmed]
  17. Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Zhou, X., Hampel, H., Thiele, H., Gorlin, R.J., Hennekam, R.C., Parisi, M., Winter, R.M., Eng, C. Lancet (2001) [Pubmed]
  18. The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor. Green, A.J., Johnson, P.H., Yates, J.R. Hum. Mol. Genet. (1994) [Pubmed]
  19. New insights into tumor suppression: PTEN suppresses tumor formation by restraining the phosphoinositide 3-kinase/AKT pathway. Cantley, L.C., Neel, B.G. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  20. Expression of the PTEN tumour suppressor protein during human development. Gimm, O., Attié-Bitach, T., Lees, J.A., Vekemans, M., Eng, C. Hum. Mol. Genet. (2000) [Pubmed]
  21. Colonic hamartoma development by anomalous duplication in Cdx2 knockout mice. Tamai, Y., Nakajima, R., Ishikawa, T., Takaku, K., Seldin, M.F., Taketo, M.M. Cancer Res. (1999) [Pubmed]
  22. Neuropathology and molecular genetics of neurofibromatosis 2 and related tumors. Louis, D.N., Ramesh, V., Gusella, J.F. Brain Pathol. (1995) [Pubmed]
  23. Adrenal medullary tumors and iris proliferation in a transgenic mouse model of neurofibromatosis. Green, J.E., Baird, A.M., Hinrichs, S.H., Klintworth, G.K., Jay, G. Am. J. Pathol. (1992) [Pubmed]
  24. Feedback inhibition of Akt signaling limits the growth of tumors lacking Tsc2. Manning, B.D., Logsdon, M.N., Lipovsky, A.I., Abbott, D., Kwiatkowski, D.J., Cantley, L.C. Genes Dev. (2005) [Pubmed]
  25. A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells. Kwiatkowski, D.J., Zhang, H., Bandura, J.L., Heiberger, K.M., Glogauer, M., el-Hashemite, N., Onda, H. Hum. Mol. Genet. (2002) [Pubmed]
  26. Cyclooxygenase 2 expression and molecular alterations in Peutz-Jeghers hamartomas and carcinomas. De Leng, W.W., Westerman, A.M., Weterman, M.A., De Rooij, F.W., Dekken Hv, H., De Goeij, A.F., Gruber, S.B., Wilson, J.H., Offerhaus, G.J., Giardiello, F.M., Keller, J.J. Clin. Cancer Res. (2003) [Pubmed]
  27. Variant translocation t(6;10)(p21;q22) in pulmonary chondroid hamartoma. Minoletti, F., Sozzi, G., Calderone, C., Di Palma, S., Pilotti, S., Azzarelli, A., Pierotti, M.A. Genes Chromosomes Cancer (1996) [Pubmed]
  28. Different electroclinical manifestations of the epilepsy associated with hamartomas connecting to the middle or posterior hypothalamus. Leal, A.J., Moreira, A., Robalo, C., Ribeiro, C. Epilepsia (2003) [Pubmed]
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